Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability
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Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6–72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations.
KeywordsParental well-being Down syndrome Rett syndrome SF-12 Intellectual disability Genetic disorder
We would like to express our sincere appreciation to all the families who have participated in the Western Australian (WA) Down Syndrome ‘Needs Opinions Wishes’ (NOW) Database, the Australian Rett Syndrome Database (ARSD) and the International CDKL5 Disorder Database (ICDD). We would also like to thank the Australian Surveillance Unit and the Rett Syndrome Association of Australia for their ongoing support in case ascertainment of the ARSD. The 2004 study of the Western Australian (WA) Down Syndrome ‘Needs Opinions Wishes’ (NOW) Database was funded by National Institutes of Health (5R01HD43100-04) and supported by the industry partners; Down syndrome WA, the Disability Services Commission, Edge Employment Solutions and the Department of Education WA. The research projects of the Australian Rett Syndrome Database (ARSD) have previously been funded by the National Institutes of Health (5R01HD043100-05) and the National Health and Medical Research Council project grants (#303189 and #1004384) and program grant (#572742). The management of the International CDKL5 Disorder Database (ICDD) has been supported by the International Foundation for CDKL5 Research. None of the funding bodies has been involved in the study design, data collection and analysis, writing of the article and decision to submit it for publication.
HL and JD provided access to study data; YM, JD, JH and HL conceived and designed the research plan; YM undertook the analysis with input from KW; all authors interpreted the data; YM drafted the paper and all authors edited and read the manuscript and agreed to it being submitted for publication.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
- Anderson, M., Elliot, E., & Zurynski, Y. (2013). Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychological support. Orphanet Journal of Rare Diseases, 8, 22. https://doi.org/10.1186/1750-1172-8-22.CrossRefPubMedPubMedCentralGoogle Scholar
- Avery, J., Grande, E., & Taylor, A. (2004). Quality of life in South Australia as measured by the SF12 health status questionnaire. Rundle Mall: Department of Human Services.Google Scholar
- Baumer, N., Barkoudah, E., & Elibol, M. (2013). Chapter 1: Neurodevelopment and neurologic examination. In K. Sims, M. Elibol, P. Musolino & J. Peters (Eds.), Handbook of pediatric neurology. Philadelphia: Wolters Kluwer Health.Google Scholar
- Bower, C., Baynam, G., Rudy, E., Quick, J., Rowley, A., Watson, L., & Cosgrove, P. (2015). Western Australian register of developmental anomalies 1980–2014. Perth: King Edward Memorial Hospital, Women’s and Children’s Health Service.Google Scholar
- Bruni, O., Ottaviano, S., Guidetti, V., Romoli, M., Innocenzi, M., Cortesi, F., & Giannotti, F. (1996). The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. Journal of Sleep Research, 5, 251–261. https://doi.org/10.1111/j.1365-2869.1996.00251.x.CrossRefPubMedGoogle Scholar
- Cantwell, J., Muldoon, O., & Gallagher, S. (2014). Social support an mastery influence the association between stress and poor physical heath in parents caring for children with developmental disabilities. Research in Developmental Disabilities, 35, 2215–2223. https://doi.org/10.1016/j.ridd.2014.05.012.CrossRefPubMedGoogle Scholar
- Cianfaglione, R., Hastings, R., Felce, D., Clarke, A., & Kerr, M. (2015). Psychological well-being of mothers and siblings in families of girls and women with Rett syndrome. Journal of Autism and Developmental Disorders, 45, 2939–2946. https://doi.org/10.1007/s10803-015-2457-y.CrossRefPubMedGoogle Scholar
- Downs, J., & Leonard, H. (2013). Longitudinal and population-based approaches to study the lifelong trajectories of children with neurodevelopmental conditions. In G. Ronen & P. Rosenbaum (Eds.), Life quality outcomes in children and young adults with neurological and developmental conditions: Concepts, evidence and practice (pp. 329–343). London: Mac Keith Press.Google Scholar
- Einfeld, S., & Tonge, B. (2002). Manual for the developmental behaviour checklist: Primary carer version (DBC-P) & teacher version (DBC-T) (2nd. ed.). Clayton: Monash University Centre for Developmental Psychiatry and Psychology.Google Scholar
- Fairthorne, J., de Klerk, N., & Leonard, H. (2015). Health of mothers of children with intellectual disability or autism spectrum disorder: A review of the literature. Medical Research Archives, 3, 1–21.Google Scholar
- Fehr, S., Downs, J., Bebbington, A., & Leonard, H. (2010). Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome. The American Journal of Human Genetics Part A, 152A, 2535–2542. https://doi.org/10.1002/ajmg.a.33640.CrossRefGoogle Scholar
- Fehr, S., Leonard, H., Ho, G., Williams, S., de Klerk, N., Forbes, D., … Downs, J. (2015). There is variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of Neurodevelopmental Disorders, 7, 2. https://doi.org/10.1186/1866-1955-7-2.CrossRefPubMedPubMedCentralGoogle Scholar
- Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., … Leonard, H. (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21, 266–273. https://doi.org/10.1038/ejhg.2012.156.CrossRefPubMedGoogle Scholar
- Foley, K., Taffe, J., Bourke, J., Einfeld, S., Tonge, B., Trollor, J., & Leonard, H. (2016). Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without Down syndrome? PLoS ONE, 11, e0157667. https://doi.org/10.1371/journal.pone.0157667.CrossRefPubMedPubMedCentralGoogle Scholar
- Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015). Down syndrome: Cognitive and behavioral functioning across the lifespan. The American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169C, 135–149. https://doi.org/10.1002/ajmg.c.31439.CrossRefGoogle Scholar
- Halbach, N., Smeets, E., van den Braak, N., van Roozendaal, K., Blok, R., Schrander-Stumpel, C., … Curfs, L. (2012). Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. American Journal of Medical Genetics Part A, 158A, 340–350. https://doi.org/10.1002/ajmg.a.34418.CrossRefPubMedGoogle Scholar
- Ingersoll, B., & Hambrick, D. (2011). The relationship between the broader autism phenotype, child severity, and stress and depression in parents of children with autism spectrum disorders. Research in Autism Spectrum Disorders, 5, 337–344. https://doi.org/10.1016/j.rasd.2010.04.017.CrossRefGoogle Scholar
- Kalsheuer, V., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kubart, S., … Gecz, J. (2003). Disruption of the Serine/Threonine Kinase 9 gene causes severe X-linked infantile spasms and mental retardation. The American Journal of Human Genetics, 72, 1401–1411. https://doi.org/10.1086/375538.CrossRefGoogle Scholar
- Kleinbaum, D., Muller, K., & Kupper, L. (1988). Applied regression analysis and other multivariable methods. Boston: PWS-Kent Pub Co.Google Scholar
- Louise, S., Fyfe, S., Bebbington, A., Bahi-Buisson, N., Anderson, A., Pineda, M., … Leonard, H. (2009). InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders, 3, 639–659. https://doi.org/10.1016/j.rasd.2008.12.004.CrossRefGoogle Scholar
- Minnes, P., Perry, A., & Weiss, J. (2015). Predictors of distress and well-being in parents of young children with developmental delays and disabilities: The importance of parent perceptions. Journal of Intellectual Disability Research, 59, 551–560. https://doi.org/10.1111/jir.12160.CrossRefPubMedGoogle Scholar
- Mori, Y., Downs, J., Wong, K., Anderson, B., Epstein, A., & Leonard, H. (2017). Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life. Orphanet Journal of Rare Diseases, 12, 16. https://doi.org/10.1186/s13023-016-0563-3.CrossRefPubMedPubMedCentralGoogle Scholar
- Ottenbacher, K., Msall, M., Lyon, N., Duffy, L., Granger, C., & Braun, S. (1999). Measuring developmental and functional status in children with disabilities. Developmental Medicine & Child Neurology, 41, 186–194. https://doi.org/10.1111/j.1469-8749.1999.tb00578.x.CrossRefGoogle Scholar
- Petterson, R., Leonard, H., Bourke, J., Sanders, R., Chalmers, R., Jacoby, P., & Bower, C. (2005). IDEA (Intellectual Disability Exploring Answers): A population-based database for intellectual disability in Western Australia. Annals of Human Biology, 32, 237–243. https://doi.org/10.1080/03014460500075035.CrossRefPubMedGoogle Scholar
- Piazza, V., Floyd, F., Mailick, M., & Greenberg, J. (2014). Coping and psychological health of ageing parents of adult children with developmental disabilities. The American Journal on Intellectual and Developmental Disabilitie, 119, 186–198. https://doi.org/10.1352/1944-7558-119.2.186.CrossRefGoogle Scholar
- Piskur, B., Meuser, S., Jongmans, M., Ketelaar, M., Smeets, R., Casparie, B., … Beurskens, A. (2016). The lived experience of parents enabling participation of their child with a physical disability at home, at school and in the community. Disability and Rehabilitation, 38, 803–812. https://doi.org/10.3109/09638288.2015.1061612.CrossRefGoogle Scholar
- Pousada, M., Guillamon, N., Hernandez-Encuentra, E., Munoz, E., Redolar, D., Boixados, M., & Gomez-Zuniga, B. (2013). Impact of caring for a child with cerebral palsy on the quality of life of parents: A systematic review of the literature. Journal of Developmental and Physical Disabilities, 25, 547–577.CrossRefGoogle Scholar
- Rothman, K., Greenland, S., & Lash, T. (2008). Modern epidemiology. Philadelphia: Lippincott Williams & Wilkins.Google Scholar
- Thomas, K., Girdler, S., Bourke, J., Deshpande, A., Bathgate, K., Fehr, S., & Leonard, H. (2010). Chapter three—Overview of health issues in school-aged children with Down syndrome. International Review of Research in Mental Retardation, 39, 67–106. https://doi.org/10.1016/S0074-7750(10)39003-3.CrossRefGoogle Scholar
- Totsika, V., Hastings, R., Emerson, E., Lancaster, G., & Berridge, D. (2011). A population-based investigation of behavioural and emotional problems and maternal mental stress: Associations with autism spectrum disorder and intellectual disability. Journal of Child Psychology and Psychiatry, 52, 91–99. https://doi.org/10.1111/j.1469-7610.2010.02295.x.CrossRefPubMedGoogle Scholar
- Tvrdik, T., Mason, D., Dent, K., Thornton, L., Hornton, S., Viskochil, D., & Stevenson, D. (2014). Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167A, 974–982. https://doi.org/10.1002/ajmg.a.36971.Google Scholar
- Urbanowicz, A., Downs, J., Bebbington, A., Jacoby, P., Girder, S., & Leonard, H. (2011). Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Research in Autism Spectrum Disorders, 5, 722–732. https://doi.org/10.1016/j.rasd.2010.08.006.CrossRefGoogle Scholar
- Ware, J., Kosinski, M., & Keller, S. (1995). SF-12: How to score the SF-12 physical and mental health summary scales (2nd ed.). Boston: The Health Institute, New England Medical Center.Google Scholar
- Ware, J., Kosinski, M., Turner-Bowker, D., & Gandek, B. (2004). How to score version 2 of the SF-12 Health Survey (with a supplement documenting version 1). Licoln: QualityMetric Incorporated.Google Scholar
- Whiting, M. (2012). Impact, meaning and need for help and support: The experience of parents caring for children with disabilities, life-limiting/life-threatening illness or technology dependence. Journal of Child Health Care, 17, 92–108. https://doi.org/10.1177/1367493512447089.CrossRefPubMedGoogle Scholar
- Whittingham, K., Wee, D., Sanders, M., & Boyd, R. (2012). Predictors of psychological adjustment, experienced parenting burden and chronic sorrow symptoms in parents of children with cerebral palsy. Child: Care, Health and Development, 39, 366–373. https://doi.org/10.1111/j.1365-2214.2012.01396.x.Google Scholar
- Zablotsky, B., Bradshaw, C., & Stuart, E. (2013). The association between mental health, stress, and coping supports in mothers of children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43, 1380–1393. https://doi.org/10.1007/s10803-012-1693-7.CrossRefPubMedGoogle Scholar